A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14423671



Internal ID22162738
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:1317082..1317152hg38UCSC Ensembl
chr4:1310870..1310940hg19UCSC Ensembl
Cytoband4p16.3
Allele length
AssemblyAllele length
hg3871
hg1971
Variant TypeOTHER complex substitution
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3170557
Supporting Variants
SamplesHG00514
Known GenesMAEA
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14423671
Frequency
Sample Size9
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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